ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830218577
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467415
ClinVar RCV Id:
RCV000538225
RCV000601528
RCV001130429
RCV001131147
RCV001131148
RCV001131149
RCV002330890
RCV001131146
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Thr14054Ile
CA1991008
NM_133432.3:c.42161C>T